Long-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease

NCT06614569 | Active Not Recruiting FDA Drug

• 1 other identifier: STUDY00001894
• Study Type: observational
• Target: 7
• Locations: 1 country
• Sites: 1

Brief Summary

This study is to continue Long-Term Follow-Up of Patients who were previously treated with AXO-AAV-GM2 Gene Therapy as treatment for Tay-Sachs or Sandhoff Disease to follow the subjects through 5 years after their initial gene therapy treatment.

Conditions

GM2 Gangliosidosis; Tay Sachs Disease; Sandhoff Disease

Outcome Measures

Primary Outcomes (1)

• Long term Safety of AXO-AAV-GM2

  Participants will be monitored for adverse events, including delayed adverse events, as a result of AXO-AAV-GM2 including de novo cancer, neurologic, rheumatologic, and hematologic/immunologic disorders.

  Every 6 months, up to five years

Secondary Outcomes (1)

• Long term Impact of AXO-AAV-GM2

  Every 6 months, up to five years

Study Arms (1)

Subjects previously treated with AXO-AAV-GM2 gene therapy for Tay-Sachs or Sandhoff Disease

All subjects have previously received gene therapy and will be followed for the collection of clinical information, especially pertaining to de novo cancer, neurologic, rheumatologic, and hematologic/immunologic disorders following AAV gene therapy.

Drug: AXO-AAV-GM2

Interventions

AXO-AAV-GM2 DRUG

Participants who received AXO-AAV-GM2 will be tracked in long term follow up

Subjects previously treated with AXO-AAV-GM2 gene therapy for Tay-Sachs or Sandhoff Disease

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects with Tay-Sachs or Sandhoff Disease who were previously treated with AXO-AAV-GM2

You may qualify if:

• Subjects who were previously enrolled in the study "A Two-Stage Dose-Escalation Study to Evaluate the Safety and Efficacy of Bilateral Intraparenchymal thalamic and intracisternal/Intrathecal Admin of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease."

You may not qualify if:

• Subjects who were not previously enrolled under the initial protocol.

Sponsors & Collaborators

• Terence Flotte: lead

Study Sites (1)

UMass Chan Medical School

Worcester, Massachusetts, 01655, United States

Location

Related Publications (1)

• Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR. Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial. Nat Med. 2025 Sep;31(9):2927-2935. doi: 10.1038/s41591-025-03822-4. Epub 2025 Aug 15.

  PMID: 40817303 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

May possibly retain frozen blood samples.

MeSH Terms

Conditions

Gangliosidoses, GM2; Tay-Sachs Disease; Sandhoff Disease

Condition Hierarchy (Ancestors)

Gangliosidoses; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Terence Flotte, MD

  UMass Chan Medical School

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor and Dean

Study Record Dates

• First Submitted: September 23, 2024
• First Posted: September 26, 2024
• Study Start: September 17, 2024
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): December 1, 2028
• Last Updated: October 16, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)